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Dystonias

  • 概述
  • 理论
  • 诊断
  • 治疗
  • 随访
  • 资源
最后审阅： 20 Sep 2025
最后更新： 27 Jan 2023

小结

定义

病史和体格检查

关键诊断因素

  • simultaneous contraction of agonist and antagonist muscles
  • muscle pain
  • appearance or worsening of dystonia with action
  • blepharospasm
  • cervical torticollis
  • hand spasms
  • foot spasms
完整详情

其他诊断因素

  • twisting of the affected body part
  • geste antagoniste (sensory trick)
  • spread to another body part
  • parkinsonism
  • myoclonus
  • tremor, weakness, or spasticity
  • Kayser-Fleischer rings on slit-lamp examination
  • acute presentation (within 5 days of exposure to antidopaminergic agent)
  • acute worsening of pre-existing generalized dystonia
完整详情

危险因素

  • family history of dystonia
  • repetitive activity of affected region
  • birth injury and delayed development in childhood
  • exposure to antidopaminergic agents
  • trauma
  • genetic mutation
  • Ashkenazi Jewish ethnicity
  • structural lesion of the basal ganglia
  • parkinsonian syndrome
完整详情

诊断性检查

首要检查

  • levodopa responsiveness
完整详情

需考虑的检查

  • cranial magnetic resonance imaging
  • serum ceruloplasmin
  • 24-hour urine copper
  • TOR1A (also known as DYT1) gene testing
  • GCH1 gene testing
完整详情

治疗流程

急症处理

acute dystonic reactions

持续性治疗

generalized dystonia

focal dystonia: other than adult isolated foot

adult isolated foot dystonia

撰稿人

作者

Ludy C. Shih, MD, MMSc

Associate Professor of Neurology

Department of Neurology

Boston University School of Medicine

Boston

MA

利益声明

LCS has been reimbursed by Medtronic, Praxis Precision Medicines, and WCG-Medavante for consulting services. LCS has received research grant funding from the National Institutes of Health, Abbott, and Praxis Precision Medicines.

鸣谢

Dr Ludy C. Shih would like to gratefully acknowledge Dr Samuel Frank, Dr David K. Simon, and Dr Daniel Tarsy, previous contributors to this topic.

Disclosures

SF is employed by the Beth Israel Deaconess Medical Center, which has received funding from Allergan to support partial fellowship training. DKS has received consulting fees from the Gerson Lehrman Group. DKS is an author of a reference cited in this topic. DT has received an unrestricted grant from Allergan and Medtronic being used for education. He received unrestricted funds for patient education from Allergan, Boehringer Ingelheim, Valeant, and Teva Neurosciences. He has received research funds from Solvay and Neurogen. DT is an author of a number of references cited in this topic.

Peer reviewers

Patricia Dowsey Limousin, MD, PhD

Reader in Clinical Neurology

Honorary Consultant

Institute of Neurology

National Hospital for Neurology and Neurosurgery

London

UK

Disclosures

PDL declares that she has no competing interests.

Zhigoa Huang, MD, PhD

Assistant Professor

Director

Movement Disorder Center

Dept of Neurology

University of Florida

Tampa

FL

Disclosures

ZH has been a consultant for Allergan and a speaker for Novartis and TEVA.

Peer reviewer acknowledgements

BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.

Disclosures

Peer reviewer affiliations and disclosures pertain to the time of the review.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Lohmann K, Klein C. Update on the genetics of dystonia. Curr Neurol Neurosci Rep. 2017 Mar;17(3):26. Abstract

Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol. 2011 Jan;18(1):5-18.Full text  Abstract

Simpson DM, Hallett M, Ashman EJ, et al. Practice guideline update summary: botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache. Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Apr 18;86(19):1818-26.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Dystonias images

  • Differentials

    • Athetoid or spastic cerebral palsy
    • Huntington disease (HD)
    • Parkinson disease (PD) or atypical parkinsonism
    More Differentials

  • Guidelines

    • Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache
    More Guidelines
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